Canonical Allele Identifier: CA771858561
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2033561
ClinVar RCV Id: RCV002885230
dbSNP Id: rs1229266840
gnomAD v4: 17-39666025-GC-G
MyVariant Identifiers: chr17:g.37822279del (hg19) chr17:g.39666026del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666030del , CM000679.2:g.39666030del GRCh38
NC_000017.10:g.37822283del , CM000679.1:g.37822283del GRCh37
NC_000017.9:g.35075809del NCBI36
NG_008892.1:g.5685del , LRG_210:g.5685del
NG_042278.1:g.3050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.425del MANE Select ENSP00000312624.2:p.Pro142LeufsTer?
ENST00000309889.2:c.425del ENSP00000312624.2:p.Pro142LeufsTer?
ENST00000578283.1:c.353del ENSP00000462787.1:p.Pro118LeufsTer?
NM_003673.3:c.425del , LRG_210t1:c.425del NP_003664.1:p.Pro142LeufsTer?
NM_003673.4:c.425del MANE Select NP_003664.1:p.Pro142LeufsTer?
Search 100 bp 5'
Search 100 bp 3'